Fourteen Novel Genetic Variations and Haplotype Structures of the TYMS Gene Encoding Human Thymidylate Synthase (TS)

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著者

    • KIM Su-Ryang
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • OZAWA Shogo
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • SAITO Yoshiro
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • KUROSE Kouichi
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • KANIWA Nahoko
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • KAMATANI Naoyuki
    • Division of Genomic Medicine, Department of Advanced Biomedical Engineering and Science, Tokyo Women's Medical University
    • SHIRAO Kuniaki
    • Gastrointestinal Oncology Division, National Cancer Center Hospital
    • MUTO Manabu
    • Gastrointestinal Oncology Division, National Cancer Center Hospital East
    • OHTSU Atsushi
    • Gastrointestinal Oncology Division, National Cancer Center Hospital East
    • MATSUMURA Yasuhiro
    • Investigative Treatment Division, Research Center for Innovative Oncology, National Cancer Center Hospital East
    • SAWADA Jun-ichi
    • Project Team for Pharmacogenetics, National Institute of Health Sciences

抄録

  Forty genetic variations including 14 novel ones were found in the human <i>TYMS</i> gene, which encodes thymidylate synthase, in 263 Japanese cancer patients who received 5-fluorouracil (FU)-based chemotherapy. Three novel variations were located within the 28-bp tandem repeat sequence in the 5′-untranslated region (UTR) and were designated 5Rc, 3Rc-ins and 4Rc. Allele frequencies were 0.021 for 5Rc, 0.006 for 3Rc-ins and 0.002 for 4Rc. Other novel variations included -133G>C and -125G>C in the 5′-UTR; IVS1-278G>A, IVS2-68C>T, IVS2-23T>C, IVS4+122_+123insATTG, IVS4-141G>A, IVS5-100A>T and IVS6-111G>A in the introns; and 1244(*302)A>G and 1264(*322)G>A in the 3′-UTR. The allele frequencies were 0.34 for IVS4+122_+123insATTG, 0.042 for -133G>C, 0.011 for IVS4-141G>A, 0.006 for -125G>C, 0.004 for IVS1-278G>A, IVS2-68C>T, 1244(*302)A>G and 1264(*322)G>A, and 0.002 for IVS2-23T>C, IVS5-100A>T and IVS6-111G>A. Using the detected polymorphisms, linkage disequilibrium (LD) analysis was performed, which divided the <i>TYMS</i> gene into three LD blocks. The 28-bp tandem repeat sequence in the 5′-UTR was assigned as Block 2 with a total of 7 alleles. In Blocks 1 and 3, 7 and 19 haplotypes were determined/inferred, respectively. Our findings provide fundamental and useful information for genotyping <i>TYMS</i> in the Japanese and probably other Asian populations.<br>

収録刊行物

  • Drug metabolism and pharmacokinetics  

    Drug metabolism and pharmacokinetics 21(6), 509-516, 2006-12-25 

    The Japanese Society for the Study of Xenobiotics

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各種コード

  • NII論文ID(NAID)
    10018659125
  • NII書誌ID(NCID)
    AA1162652X
  • 本文言語コード
    ENG
  • 資料種別
    SHO
  • ISSN
    13474367
  • データ提供元
    CJP書誌  J-STAGE 
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